Variant #0000683273 (NC_000007.13:g.5568844A>C, ACTB(NM_001101.3):c.311T>G)

Individual ID 00307699
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5568844A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID ACTB_000077
Variant remarks ACMG grading: PS2,PM2,PP2,PP3
de novo confirmed, PS2 counted as "moderate" evidence according to ACMG
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTB NM_001101.3 +?/. - c.311T>G r.(?) p.(Leu104Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308839 DNA SEQ-NG-S - - - 1 Andreas Laner